Press Clippings

More Achromatopsia in the news today. I am in danger of turning this blog into a clipping service!

Local newspaper article about two sisters living with Achromatopsia. This previous article about one of them is better written and is, to my mind, more interesting.

This week, the BBC featured research into retinal ganglion cells: Drug lets blind eyes see light. It does not refer to Achromatopsia but includes a magnificent picture of the retina.

Paralympics

As a Londoner, I believe this whole city is really enjoying hosting the Olympics and the Paralympics. There is so much written about the Paralympics and how it is coming of age, world class sport, etc that I don't need to rehash all of that here. I just want to add for the record how proud I am of London and Britain for embracing the Paralympics. I think I am more proud of the Paralympics than I was of the Olympics.

Around the water cooler and in the lunch room, we are all talking about the Paralympics: the coverage, who's going to what events, taking time off to go along, envious of families on the tube, dressed in their supporters gear, heading for a great day out in Stratford. It's the Olympics all over again, not Olympics-lite at all!

I just wish Charlotte could have been a few years older to enjoy all of this with us.

Passers by

I met my first blind adult recently – at the Olympics. It was really nice to have a conversation with a blind person about blindness and realise that it is not the defining feature of their existence. I am afraid that we (I) do still define strangers by their disability so it is really nice to get the opportunity to get past it and be normal human beings together, even if we are talking about living with a disability. We were standing at the barrier waiting for the men’s triathlon to start. I heard his mother talk about how he is blind so I really wanted to strike up a conversation but felt a bit awkward about just diving in. He had no visible signs of blindness - his eyes looked normal and his cane was folded away. I waited a while and had a much better opportunity when his mother gave him very specific directions about how to walk around a chair to get to a better spot. I said, “Oh, do you have a visual impairment? So does she [pointing to Ch].” After that, we had an excellent chat, I told him that he was the first blind adult I had met in real life. He replied that he doesn’t mind it if people stop him in the street but I fear that many would not be so amenable. In fact, the most useful titbit of information I gleaned is that Disneyland and other theme parks give discount entry and priority queueing to blind people and their companions! He said his friends make him go on all the rides, even when he feels green – shame on them! He has had some other health issues which have been ongoing since childhood but all in all, he was very good company and I left our encounter feeling thoroughly uplifted. Thanks stranger!

Inspiration comes in many forms

http://www.ted.com/talks/caroline_casey_looking_past_limits.html I'm not sure how I feel about this woman's experience. She is clearly an inspiring speaker and will do a lot of good in the world. There is no such thing as too many positive role models! The part I feel most confused about is how her parents decided not to tell her that she was (is) blind. That is an incredibly brave decision to make and I don't think I could do it. But I worry that I should do it. This woman is a high achiever, David Blunkett (a former politician who was the Home Secretary) said he grew up not knowing that he was blind. Is that what it takes to achieve in the real world? A belief that you are no different from anyone else, a belief that can only be truly obtained if you really are never told that you are different? How is that even possible? Able-bodied people are all different in their own ways and many people have huge insecurities and self doubt. To me, making the most of what you've got is a huge part of attaining real maturity. Besides, I could never maintain a secret like that. I am naturally an honest person and I would feel like I was keeping a secret from her. I don't want her to feel like she has to work 20-100 times harder. She has a right to ask for help, in the classroom, in the workplace, get low-vision aids working for her, get disability allowance, get that fabulous blue badge for parking! Those things don't exempt her from a social contract, she still has to work hard, love others, do her best and make her life what she wants it to be. If she chooses to fake vision (as she well might) I understand but I can't do it. Is it my own selfishness, my need to talk, vent, explore, come to terms with this? All I can hope for is that we raise a well-rounded, confident child who loves herself. I'll let you know how we get on!

Achromat Kindergartener

I am (slowly) widening my circle of Achromat families and contacted someone through the Facebook group. She has a four year old who is about to start school. It was so great to see him in action today, he is a totally normal kid and all the kids had a great time at the soft play and the cafe that we went to. It is really good to compare notes with other mothers and find out about their situation. They are with the same consultant that we have, which is cool, and it was also interesting to note that he hasn't got a Statement for special needs for schooling. It really is a spectrum between lots of intervention and getting on with life as usual and each family falls somewhere along the line for different things. I was so interested in finding out as much as I could, because they are two years further down the road that we are on, but we ended up chatting about completely unrelated things about our kids and lives! I guess it's as good an endorsement as any that life goes on just the same.

I do want to write down one fantastic thing that she passed on to me: the head teacher at her son's new school said to her that every family has an issue, in some cases, it's obvious and in others it is more subtle, but all families have things that they have to deal with. Such a lovely, reassuring thing for him to say, and I really want to remember that.

Blog post

I wanted to share this blog post about mothering a disabled child. It sums up my feelings very well.

Famous navigators

Christopher Columbus, Ferdinand Magellan, James Cook? Oh no, my little Charlie is the best of them all!

Without her, Granny wouldn't have found her way to pick Emily up from school. She was heading into the completely wrong classroom and Charlotte grabbed her hand and started pointing and pulling her into the right room. Granny had no idea why she was making such a fuss but was so proud of her for being such an expert navigator. Not bad for a toddler!

Achromatopsia playdate

This week Charlotte had her annual get together with her little friend Harvey. We can only do this during school holidays because they don't live very close to us but it was worth the trip. It is so nice to get together with people who are having the same experience as us and even if Charlotte and Harvey have nothing in common as they grow up, hopefully it will be a comfort to each of them to know that there are others in the world like themselves. Plus, it is fab to go to someone's house where they also keep the curtains closed!

New Achromatopsia Blog

A welcome new blog from someone with Achromatopsia:

http://factoidz.com/what-is-achromatopsia/

I'll be following along with interest because I can never get enough information from first-person experiences.

Achromatopsia Convention

Some of the hard-working Achromats who network heavily through Yahoo Groups have arranged themselves a convention.

While we won't be able to attend (Chicago is a bit too far), I do want to give them a plug: it's 1 - 3 August and while the website is obviously still being compiled, the registration looks like it's working: www.achromatopsiaconvention.org

I like to think that one day I would have the guts to turn up at something like that. Go achromats!

Famous blind people

I love hearing stories about famous blind people. What I love even more is when I have had no idea that they were blind.

3 particular cases:

1. David Blunkett, former Home Secretary of HM's Government.
This guy held one of the most important posts in the government and was in the news almost daily. He resigned from the government twice and was in disgace for cheating on his wife. I probably read at least 50-100 articles about him before I read one that mentioned (in passing) that he was born blind. While I don't agree with his politics or his morals I absolutely love the fact that a blind man is so famous for everything except his blindness. I still haven't exactly figured out (or bothered to find out) what his exact condition is.

2. John Kay, lead singer of Steppenwolf (Born to be Wild).
I got this one from the Achromatopsia.info website because he actually has achromatopsia. I don't personally remember a time when he was famous but I definately know the signature song. Apparently he now lives in Vancouver - maybe we'll stop by with our blind child next time we go to stay with M's mother!

3. APL.DE.AP, singer with the Black Eyed Peas.
I've noticed their quirky glasses but didn't realise one had nystagmus. Thanks to James from the Nystagmus blog for posting this story from The Sun.

Achromatopsia in the press

Well, ok, so it's not mainstream media but Woman's Day is about the most widely read weekly woman's magazine in Australia so it must count for something:



Aside from calling it "Chromatopsia", it's quite nice to have any of these kind of human interest stories that raise awareness. I do think the parents missed an opportunity to raise funds for research and gene therapy by mentioning some such organisation as Foundation Fighting Blindness or Australian equivalent. It's a pity they didn't reference any future possible treatment at all. It might have given the story a little more poignancy or urgency. Maybe it's not the magazine's policy, but I couldn't see a particular point to the story (it's mainly just, "Here's our blind kid").

I do get sad when I see pictures of children walking with white canes. I am very, very much in denial about this part of Charlotte's future. I know not all Achromats use them but it has been a bit of a shock to realise how many actually do. I still joke that a guide dog is the only way this family are getting a pet!

My Mum has been very comforting about this for me. She is very good about the one-step-at-a-time stuff (so is M, so I am very lucky), she said that whatever Charlotte needs at whatever time, I will be glad to get for her and I will adjust to whatever it is at the time it is needed. One step at a time. And don't borrow trouble.

Book review: No End in Sight by Rachael Scdoris

No End in Sight, My Life as a Blind Iditarod Racer by Rachael Scdoris and Rick Steber. I have to say, I enjoyed this book a lot. It is not going to set the literary world on fire but it is an entertaining read and the author's voice (even though it is ghost written) comes through loud and clear as a very likeable individual.

I was saddened by the chapters about her difficult time at school. I am a little bit hopeful that these were played up - in the name of overcoming adversity. I learned a lot about sled-dog racing. She has made some factual errors about Achromatopsia: the book describes it (twice) as a disorder of cones and rods.

I think I'll get a copy for Mum for her birthday - it's a far more interesting book than Oliver Sachs'. I wondered if I should send her a message via Facebook?

Miscellaneous ramblings

I've got lots to write about today, sometimes I think I don't have anything to say but if I really think about it, I can usually come up with something. Today, I have lots of somethings.

Firstly: Charlotte and her injuries. It's still not normal and not right. I took her to the doctor yesterday. He was nice about it but didn't really feel that it was so serious that it merited further investigation. He recommended damage limitation and wait and see. That's ok with me for now. While it is concerning that she would rather do the action than avoid injuring herself, it could be a bad habit, it could be a way of stimulating her senses, it could be soothing and hopefully, it will just go away on it's own. At least I have raised it with someone and I don't feel like I should be doing any more right now. The Dr pointed out that if anyone is going to work with children with negative behaviours, it would be when they are older anyway. I am still going to mention it to every professional that we go to see and I am going to call her VI teacher about it again when the summer holidays are over. Also, it is good that I know about these sorts of injuries before the new nanny starts, it would be very disturbing to have random bruises and scratches appearing on my baby with a new caregiver in the picture. I'll have to talk to her about them when she starts (one more week - can't wait!)

I finally got up the courage to start going through Charlotte's baby photos in preparation for producing a baby album for her. I haven't been able to look at photos from her first three months. All I think about is how we were so happy and we had everything we ever wanted. Well, no one ever has everything they ever wanted and we are still happy now. One of the things that Martin articulated when all this first happened was that he lost the feeling that he had always had that life would only get better. I think we are back in a place where we do expect that life will continue to get better. We really do have it very good. Still, the photo viewing did make me sad. But I am looking forward to producing a nice album for her. Since no one has given me a nice album, I think I am going to get a photobook online. Filling it with pictures of a second baby is always a challenge - there are almost none of them alone!

I finally took delivery of another Achromatopsia-related book today. It is No End in Sight, My Life as a Blind Iditarod Racer by Rachael Scdoris and Rick Steber. Rachael has Achromatopsia and I'm looking forward to reading it. In fact, I have read about two chapters already, as I finished undoing the packaging - even though I was supposed to be making dinner. I'm going to sit back down to it as soon as I finish this blog post. I think it will be a pretty fast read and I'll post a review when I am finished.

A good article about Blind Football was published by the BBC today: http://www.bbc.co.uk/news/magazine-10914782 I don't know if I am more attuned to it now, but I do see mention of Blind Sport from time to time in the mainstream media. I guess it is one of the more intriguing things about blindness - most people know about Braille and guide dogs. I think it is good exposure and I really hope that we are going to be able to hook Charlotte up with sports associations in the future to help her build confidence and physical skills. Of course, if she wants to get out there with the fully sighted, that's fine too! I think I will be paying closer attention to the Paralympics, looking for blind athletes to point out to her.

The Yahoo Group has posted some early ideas about an Achromatopsia Conference that they would like to plan for next year. There have been a few in past years. It sounds like a good idea and I have been wondering if I can lend my event-planning skills in any way. Mainly, I am wondering if I can bring any money to it by finding willing sponsors or exhibitors for the event. I'm not sure, there are two companies I can think of who would be flogging their products and services to Achromats and they know they are already well known by the community so I don't know how much they would pay to get in front of them. Maybe to preserve exclusivity?
Sponsor types:
-Ophthalmologists
-Low Vision services
-Sunglasses
-Genetic testing services
Something to think about anyway. I wonder how many people they are expecting? I don't see us going but I'll follow along with their progress.

New website

Less than a week after I posted the web resources below, I checked out the Yahoo Achromatopsia Group and found a new website from the Low Vision Drs in Indiana. The info is pretty good and I have added a link to the sidebar. Of course, it is a sales exercise for their services so I have to view it with a filter (HA HA!) but it is working on me - I've even looked at how to fly to Indianapolis from London. But, I confess, I did have to look on Google Maps first to find out where on earth it is. I'll have to go back and see what the members of the discussion groups are saying about it. But that will have to wait for another day, I have stayed up way too late as it is.

My favourite web resources

As I was compiling a list for a friend of a friend, I realised I haven't got all my info written down in one place. So here goes:

General web stuff: Wikipedia, You Tube, Facebook, Yahoo Groups
Specialised Nystagmus Networks: America: www.nystagmus.org; UK: www.nystgamusnet.org
Blind Charities: RNIB: www.rnib.com (info on eye conditions is good); USA: www.afb.org (forums are extensive and searchable)
Blogs:
http://theshiftyeyesblog.com/
http://mikehughescq.wordpress.com/2009/09/20/nystagmus-oh-you-mean-like-astigmatism/
http://nystagmusblog.co.uk/
http://nystagmusandcones.blogspot.com/
Forum (this one seems to be the most active for Brits)
http://www.nystagmus.co.uk/forum/index.php

Disability: http://www.schuylersmonster.com/presskit/P101_perfect_child.pdf
(because the other article that does the rounds - Welcome to Holland - is rubbish!)

Achromat "playdate"

We met our first other Achromat this week. Harvey came over to play with Charlotte at our holiday cottage. It was so fortunate that we were on holiday there, otherwise we would have been quite unlikely to have met up with them. His Mum brought him over, he is just over 1 year old. He wears his sunglasses almost all the time and they have a prescription in them too. He was toddling fine, I kept the curtains drawn and they got on well. They are both at that kind of annoying age where they just swat at each other, rather than play with anything. But it was nice to meet another kid with the same condition. His nystagmus is the same, but he looks up to focus and I think Charlotte's preference is down. His mother is really nice and it was lovely to talk in person to someone. We are going to make a plan to meet up again - logistically it is not that easy though.

Another mother

I had a great conversation on Tuesday with the mother of another Achromat-kid. She is a member of the Facebook group for Achromatopsia. I had messaged a different one but we hadn't spoken on the phone. Instead, I spoke to Louise. She seemed really nice and hopefully we might be able to meet in person one day soon. Maybe I am an over-contacter but I feel like talking to her every day!

Review: The Island of the Colourblind by Oliver Sacks

Well, I wasn't blown away by this book and I don't even know if I would recommend it as a good read. I have to say I enjoyed the Achromatopsia Network books far more. But that is probably because they gave me information about Charlotte and that is what I am looking for right now.

The journey to the Pacific islands is portrayed enthusiastically and he gives a good overview of subjects as diverse as biology, botany, geology, history and Darwinism. What I wanted to read about were more personal accounts, even from Knut. But it was good to read about an outsiders's perception of Knut because many people with a condition may feel they are normal but not act like it to our way of thinking.

It's a very short book, the publishers have had to bundle it with another just to create enough pages to bind a book.

I don't think I'll be reading other Sacks' books, there's enough genetic curiosities in our lives to prevent me from being interested in reading about others'.

The kindness of strangers

Yesterday at church we had a very nice thing happen. The church is one that we have been going to on and off for about four years and the congregation is not known for its warm welcome. So yesterday when a woman approached me, I assumed she was trying to get past. Then she asked me if Charlotte's sunglasses were medical or fashionable. I wasn't that keen to discuss it but then I realised that her approach had been so sensitive that she obviously had some experience of these matters. She told me that her daughter has an allergy to UV light and she wears protective clothing and sunglasses and avoids bright situations.

This is the first time I have had a conversation in person with someone who has been through a similar thing to me. I had to leave but I gave her my number and asked her to call me. I told her that I am in Hampstead every afternoon and I would love to have a coffee with her one day before we pick up our children from school. It was really nice of her to come and introduce herself to me and I am very grateful. I do hope she calls.

Her daughter also goes to one of the schools that it would be possible for our girls to attend and she said they have been wonderful in accommodating her daughter's special needs.